Canonical Allele Identifier: CA389910077
Gene: SIX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.61115361C>T (hg19) chr14:g.60648643C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648643C>T , CM000676.2:g.60648643C>T GRCh38
NC_000014.8:g.61115361C>T , CM000676.1:g.61115361C>T GRCh37
NC_000014.7:g.60185114C>T NCBI36
NG_008231.1:g.5795G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.547G>A MANE Select ENSP00000494686.1:p.Glu183Lys
ENST00000247182.6:c.547G>A ENSP00000247182.5:p.Glu183Lys
ENST00000553535.2:n.249-2066G>A
ENST00000554986.2:c.42-2066G>A ENSP00000452700.2:n.42-2066G>A
ENST00000555955.3:n.1198-2066G>A
NM_005982.3:c.547G>A NP_005973.1:p.Glu183Lys
XM_017021602.2:c.501+46G>A XP_016877091.1:n.501+46G>A
NM_005982.4:c.547G>A MANE Select NP_005973.1:p.Glu183Lys
Search 100 bp 5'
Search 100 bp 3'